Innermost Healthcare

12/01/2026

Spinal Muscular Atrophy (SMA) - Carrier Screening and Newborn Screening in the UK.

What is SMA?
Spinal Muscular Atrophy (SMA) is a genetic neuromuscular condition that affects the motor neurones that control voluntary muscle movement. Loss of these neurones leads to progressive muscle weakness and muscle wasting. Intelligence, learning ability and sensation are not affected.

Cause and Genetics
SMA is caused by absence or malfunction of the SMN1 gene. Both copies of the gene must be affected for SMA to develop. A related gene, SMN2, produces small amounts of the same protein and modifies severity, but does not precisely predict outcome.

Inheritance
SMA is inherited in an autosomal recessive pattern. Parents are usually healthy carriers. If both parents are carriers, each pregnancy has a 25% chance of being affected.

How common is SMA?
Approximately 1 in 10,000 babies are born with SMA. Around 1 in 40–60 people are carriers.

Types of SMA
Type
Typical onset
Motor abilities (historical)

Type 0
Before birth
Severe weakness, respiratory failure at birth

Type 1
< 6 months
Unable to sit independently

Type 2
6–18 months
Can sit but not walk

Type 3
Childhood
Walks initially, later weakness

Type 4
Adulthood
Mild, slowly progressive weakness



UK-Specific Clarification

Spinal Muscular Atrophy (SMA) is not included in the UK NHS newborn blood spot (heel-prick) screening programme.

Newborn Screening (NHS-aligned)
Newborn screening aims to identify babies who are very likely to have SMA so they can be referred promptly for specialist assessment and early treatment. A positive screening result is not a diagnosis and does not predict severity. Confirmatory genetic testing is always required.

Carrier Screening (NHS GEP-aligned)
Carrier screening identifies individuals who carry one non-working copy of the SMN1 gene. Carriers are healthy and do not develop SMA. If both partners are carriers, there is a 1 in 4 chance in each pregnancy that the baby will be affected. A negative result significantly reduces, but does not eliminate, the chance of being a carrier.

The Natera Horizon carrier screen blood test screens for a wide range of recessive conditions like SMA.

https://innermosthealthcare.com/product/natera-horizon-carrier-screen/

If a woman is screen negative her babies wont get SMA. If she carries the gene then her partner can have the test with no lab fee. If he is is screen negative her babies wont get SMA. If he is a carrier too then there is a 1:4 chance of an affected baby and she can have prenatal testing by amniocentesis or ensure baby has early newborn screening.

https://innermosthealthcare.com/product/fulgent-newborn-screening-test/

Treatment and Support
SMA is now a treatable condition. Disease-modifying treatments increase SMN protein levels and are most effective when started early, ideally before symptoms develop. Supportive care includes respiratory, nutritional, physiotherapy, occupational therapy and orthopaedic management.

Further Information

Being given information about Spinal Muscular Atrophy (SMA) can feel overwhelming. Reliable information and specialist support are available.

NHS Support

NHS Newborn Blood Spot Screening Programme
Provides information about newborn screening, including SMA, and what screening results mean.
• Information for parents about the heel-prick test
• Explanation of screening results and follow-up pathways
• NHS-approved patient resources

Parents can also speak to their midwife, health visitor, GP, or specialist team for personalised advice and support.

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UK National Screening Committee (UK NSC)

The UK NSC advises governments across the UK on which conditions should be included in national screening programmes.
• Reviews evidence on benefits and risks of screening
• Provides reassurance that screening decisions are evidence-based
• Oversees national policy on newborn screening

UK NSC recommendations underpin the inclusion of SMA in newborn screening in England.

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SMA UK (Patient Support Organisation)

SMA UK is the main UK charity supporting people affected by SMA and their families.

They provide:
• Clear, trustworthy information about SMA
• Emotional and practical support for families
• Access to specialist nurses and advisors
• Information about living with SMA, education, and equipment
• Opportunities to connect with other families

Many families find it helpful to speak to others who have experience of SMA alongside receiving medical care.

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Genetic Counselling and Specialist Care

Families affected by SMA, or identified as carriers, are usually offered access to:
• Clinical genetics services
• Genetic counselling, to explain results and options
• Specialist paediatric neuromuscular teams, coordinated through the NHS

These services aim to support informed decision-making and ongoing care.

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Important Reassurance
• SMA is no one’s fault
• Parents are usually healthy carriers without knowing
• SMA is now a treatable condition
• Early diagnosis allows the best possible outcomes
• Support is available at every stage

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Leaflet Disclaimer

This leaflet is intended to provide general information and support.
It does not replace discussions with your healthcare professionals, who can give advice tailored to your individual circumstances.

Innermost Healthcare | Ashtree Medical Clinic, Cardiff
HIW Registered Clinic | Prepared by Dr Bryan Beattie MD FRCOG, Consultant in Fetal Medicine

06/11/2025

Thinking about a private pregnancy scan?
Here’s how to choose a safe, regulated clinic in Wales — and why it matters for you and your baby. 💕

When booking a private scan, make sure your clinic is registered with Health Inspectorate Wales (HIW).
This means it meets strict standards for safety, staff training, and quality of care — giving you the peace of mind that your pregnancy scan is both safe and professionally run.

You can check if a clinic is regulated here 👉
🔗 https://www.hiw.org.uk

You can read more about the Society of Radiographers safety concerns about unregulated clinics with untrained sonographers here 👉
🔗 https://www.facebook.com/100064754708656/posts/1243369064498239/?

💗 Your baby’s safety starts with choosing a regulated clinic.

Regulated Private Pregnancy Scan Clinics in Wales
Innermost Healthcare Cardiff Gate
Infiniti Healthcare CaInnermost HealthcareClinic CardiffInfiniti HealthcarePenarth httpsOak Tree Clinicund.co.uk/

If you know of any others please leave a message in comments and we will check with HIW and add them to the list. Thanks. Dr Bryan Beattie - MD FRCOG - Consultant in Fetal Medicine.

06/11/2025

Some high-street clinics are risking lives by letting untrained staff do baby scans, warn experts.

03/11/2025

“UK’s unregulated pregnancy scan clinics putting lives in danger, say experts.
Hospital specialists report cases of missed health problems, misdiagnosed conditions, and women erroneously told their babies had died.”

Dr Bryan Beattie (Consultant in Fetal Medicine) from Innermost Healthcare advises “any pregnant woman planning to have a private pregnancy scan or NIPT test should check the clinic is properly regulated.

This means regulated by the Care Quality Commission (CQC) for clinics in England, Healthcare Inspectorate Wales (HIW) for clinics in Wales, Health Improvement Scotland (HIS) for clinics in Scotland or RQIA for those in Northern Ireland.

“Check the clinic is registered and when they were last inspected and what their report said. Your pregnancy is too important to take a chance on an unregulated scan in an unregulated clinic!”

Hospital specialists report cases of missed health problems, misdiagnosed conditions, and women erroneously told their babies had died

09/10/2025

Thinking about all of those who have lost a baby.

30/09/2025

🌸 Nub Theory in Pregnancy

Can your baby’s gender be seen early on a scan?

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What is Nub Theory?

During early pregnancy, all babies develop a small bump between their legs called the ge***al tubercle, sometimes called the “nub”.
• On an ultrasound scan, this nub can sometimes be seen clearly between 11 and 14 weeks.
• The angle of the nub compared with the baby’s spine may suggest the baby’s s*x.

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How does it work?
• Nub parallel to the spine (flat or pointing down slightly) → more likely girl
• Nub pointing upwards at more than 30° → more likely boy

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When can Nub Theory be used?
• Too early (99% accurate for fetal s*x (as well as chromosomal conditions).
• 20-week anomaly scan: Usually accurate (>95%), but baby’s position can affect views.

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Important things to remember
• Nub Theory is not part of routine NHS screening.
• It should not be used for medical decision-making.
• If you need to know your baby’s s*x for medical reasons (for example, certain genetic conditions), your doctor or midwife will arrange reliable testing.

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Blue or Pink NIPT Gender Blood Test
Reliable gender prediction from 6 weeks of pregnancy

https://innermosthealthcare.com/blue-or-pink-early-gender-test/

————
References
1. Efrat Z, Akinfenwa OO, Cuckle H. First-trimester determination of fetal gender by ultrasound. Ultrasound Obstet Gynecol. 1999;13(5):305-307. doi:10.1046/j.1469-0705.1999.13050305.x
2. Whitlow BJ, Lazanakis MS, Economides DL. The sonographic identification of fetal gender from 11 to 14 weeks of gestation. Ultrasound Obstet Gynecol. 1999;13(5):301-304. doi:10.1046/j.1469-0705.1999.13050301.x
3. NHS. Screening tests for you and your baby. NHS website

22/09/2025

Paracetemol is safe in pregnancy!
Dr Bryan Beattie
Consultant in Fetal Medicine

Click the links - read the evidence - stay informed!

NHS Guidance (Medicines in Pregnancy – Paracetamol):
https://www.nhs.uk/pregnancy/keeping-well/medicines/

UK Teratology Information Service (UKTIS – Paracetamol):
https://www.uktis.org/monographs/use-of-paracetamol-in-pregnancy/

21/09/2025

You can now join us over on TikTok!

Follow us and join our community 💙
https://www.tiktok.com/

If there are any pregnancy loss-related topics you'd like to see us cover in our future content, let us know by writing them in the comments below 👇

18/09/2025

17/09/2025

The RCOG has responded to the announcement of the 14 NHS Trusts selected for review as part of the rapid national maternity and neonatal safety investigation chaired by Baroness Amos.

Professor Ranee Thakar, President of the Royal College of Obstetricians and Gynaecologists, commented: “There is no doubt today’s announcement will create real anxiety among women, families and staff at the fourteen Trusts selected. It is vital that the review process now brings everyone together with compassion, a commitment to transparency and appropriate support.

“Too many women and babies are not getting the safe, compassionate care they deserve and the maternity workforce is on its knees, with staff leaving the profession. The RCOG is committed to working with the government, our members and women to support the investigation and to re-build a world-class maternity system.”

Read more: https://brnw.ch/21wVL9T

17/09/2025

Any pregnant women planning a vaginal birth should be told about the risk of Group B Strep and how to reduce that risk!
Dr Bryan Beattie
Consultant in Fetal Medicine

This morning, the Government have announced that fourteen NHS Trusts will have their maternity services investigated, as part of the wider rapid review of maternity and neonatal care in England.

This work must hear from families affected by group B Strep, and their voices must be listened to. Their experiences - often marked by heartbreak and trauma - have already helped shape the terms of reference for this investigation, and their courage in speaking out will help drive change.
The review must hear from those in seldom heard communities, whose experiences are too often overlooked. It also needs to learn from good and improving practice—not just where things have fallen short—so that we can build on what works and make care better for everyone.
We hope that the review will result in practical and effective recommendations that will improve maternity and neonatal safety in every hospital across England. But to achieve that it needs to listen to families, tackle inequalities, and ensure compassionate care is at the heart of every maternity service.

It’s so important that families and staff at these hospitals are supported throughout this process. We know that most births are safe, and that staff work hard to provide the best care they can. But where things have gone wrong, we must learn and act.

Group B Strep Support stands ready to contribute and support this work. Every family deserves safe, respectful, and high-quality care - nothing less.

Learn more here: https://www.gov.uk/government/news/14-nhs-trusts-the-focus-of-national-maternity-investigation

17/09/2025

This is My are a highly respected and established CQC accredited clinic network in England.